Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

The Lancet Oncology

Volumn 10, Issue 5, 2009, Pages 508-515

  Brems, Hilde ^a   Beert, Eline ^a   de Ravel, Thomy ^a   Legius, Eric ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; MAMMALIAN TARGET OF RAPAMYCIN; MEVINOLIN; MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; P21 ACTIVATED KINASE 1; PROTEIN FARNESYLTRANSFERASE INHIBITOR; RAPAMYCIN; RAS PROTEIN; ROMIDEPSIN; SORAFENIB;

BREAST CANCER; CANCER GENETICS; CANCER GRADING; CANCER GROWTH; CANCER INVASION; CANCER LOCALIZATION; CANCER RISK; CANCER SURVIVAL; CARCINOGENESIS; CENTRAL NERVOUS SYSTEM TUMOR; CLINICAL FEATURE; CYTOLOGY; DISEASE COURSE; DRUG MECHANISM; DRUG TARGETING; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; GENETIC RISK; HUMAN; MALIGNANT NEOPLASTIC DISEASE; MALIGNANT TRANSFORMATION; NERVE SHEATH TUMOR; NEUROBLASTOMA; NEUROFIBROMATOSIS; NONHUMAN; OPTIC NERVE GLIOMA; PERIPHERAL NERVE TUMOR; PHEOCHROMOCYTOMA; PRACTICE GUIDELINE; PRECANCER; PRIORITY JOURNAL; PROGNOSIS; REVIEW; RHABDOMYOSARCOMA; RISK ASSESSMENT; SOLID TUMOR; SOMATOSTATINOMA;

HUMANS; NEUROFIBROMATOSIS 1;

EID: 65349086151     PISSN: 14702045     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1470-2045(09)70033-6     Document Type: Review

References (79)

1. Huson S.M., Compston D.A., Clark P., and Harper P.S. A genetic study of von Recklinghausen neurofibromatosis in south east Wales I: prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 26 (1989) 704-711
2. Rasmussen S.A., and Friedman J.M. NF1 gene and neurofibromatosis 1. Am J Epidemiol 151 (2000) 33-40
3. Niemeyer C.M., Arico M., Basso G., et al. Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). Blood 89 (1997) 3534-3543
4. Fletcher C.D., Berman J.J., Corless C., et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Int J Surg Pathol 10 (2002) 81-89
5. Zöller M.E., Rembeck B., Odén A., et al. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 79 (1997) 2125-2131
6. Miettinen M., Fetsch J.F., Sobin L.H., and Lasota J. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol 30 (2006) 90-96
7. Mussi C., Schildhaus H.U., Gronchi A., et al. Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1. Clin Cancer Res 14 (2008) 4550-4555
8. Riccardi V.M. Von Recklinghausen neurofibromatosis. N Engl J Med 305 (1981) 1617-1627
9. Huson S.M., Compston D.A., and Harper P.S. A genetic study of von Recklinghausen neurofibromatosis in south east Wales II: guidelines for genetic counselling. J Med Genet 26 (1989) 712-721
10. Sharif S., Moran A., Huson S.M., et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 44 (2007) 481-484
11. Sung L., Anderson J.R., Arndt C., et al. Neurofibromatosis in children with rhabdomyosarcoma: a report from the intergroup rhabdomyosarcoma study IV. J Pediatr 44 (2004) 666-668
12. Szudek J., Birch P., Riccardi V.M., et al. Associations of clinical features in neurofibromatosis 1 (NF1). Genet Epidemiol 19 (2000) 429-439
13. Blazo M.A., Lewis R.A., Chintagumpala M.M., et al. Outcomes of systematic screening for optic pathway tumors in children with neurofibromatosis type 1. Am J Med Genet A 127 (2004) 224-229
14. Evans D.G., Baser M.E., McGaughran J., et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 39 (2002) 311-314
15. Maertens O., Prenen H., Debiec-Rychter M., et al. Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet 15 (2006) 1015-1023
16. Xu W., Mulligan L.M., Ponder M.A., et al. Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis. Genes Chromosomes Cancer 4 (1992) 337-342
17. Gutmann D.H., Cole J.L., Stone W.J., et al. Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I. Genes Chromosomes Cancer 10 (1994) 55-58
18. Bausch B., Borozdin W., Mautner V.F., et al. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with phaeochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab 92 (2007) 2784-2792
19. Lau N., Feldkamp M.M., Roncari L., et al. Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma. J Neuropathol Exp Neurol 59 (2000) 59-67
20. Gutmann D.H., Donahoe J., Brown T., et al. Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas. Neuropathol Appl Neurobiol 6 (2000) 61-67
21. Gutmann D.H., James C.D., Poyhonen M., et al. Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1. Neurology 61 (2003) 397-400
22. Li J., Perry A., James C.D., and Gutmann D.H. Cancer-related gene expression profiles in NF1-associated pilocytic astrocytomas. Neurology 56 (2001) 885-890
23. Tada K., Kochi M., Saya H., et al. Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1. Neuro Oncol 5 (2003) 228-234
24. Nielsen G.P., Stemmer-Rachamimov A.O., Ino Y., et al. Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation. Am J Pathol 155 (1999) 1879-1884
25. Legius E., Marchuk D.A., Collins F.S., and Glover T.W. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 3 (1993) 122-126
26. Glover T.W., Stein C.K., Legius E., et al. Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis. Genes Chromosomes Cancer 3 (1991) 62-70
27. Legius E., Dierick H., Wu R., et al. P53 mutations are frequent in malignant NF1 tumors. Genes Chromosomes Cancer 10 (1994) 250-255
28. Matrinsson T., Sjöberg R.M., Hedborg F., and Kogner P. Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma. Cancer Genet Cytogenet 95 (1997) 183-189
29. Origone P., Defferrari R., Mazzocco K., et al. Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma. Am J Med Genet A 118 (2003) 309-313
30. Hegedus B., Banerjee D., Yeh T.H., et al. Preclinical cancer therapy in a mouse model of neurofibromatosis-1 optic glioma. Cancer Res 68 (2008) 1520-1528
31. Johansson G., Mahller Y.Y., Collins M.H., et al. Effective in vivo targeting of the mammalian target of rapamycin pathway in malignant peripheral nerve sheath tumors. Mol Cancer Ther 7 (2008) 1237-1245
32. Hirokawa Y., Nakajima H., Hanemann C.O., et al. Signal therapy of NF1-deficient tumor xenograft in mice by the anti-PAK1 drug FK228. Cancer Biol Ther 4 (2005) 379-381
33. Gumbs A.A., Moore P.S., Falconi M., et al. Review of the clinical, histological, and molecular aspects of pancreatic endocrine neoplasms. J Surg Oncol 81 (2002) 45-53
34. Caiazzo R., Mariette C., Piessen G., et al. Type I neurofibromatosis, phaeochromocytoma and somatostatinoma of the ampulla. Literature review. Ann Chir 13 (2006) 393-397
35. Cappelli C., Agosti B., Braga M., et al. Von Recklinghausen's neurofibromatosis associated with duodenal somatostatinoma. A case report and review of the literature. Minerva Endocrinol 29 (2004) 19-24
36. Bettini R., Falconi M., Crippa S., et al. Ampullary somatostatinomas and jejunal gastrointestinal stromal tumor in a patient with Von Recklinghausen's disease. World J Gastroenterol 13 (2007) 2761-2763
37. Lenders J.W., Eisenhofer G., Mannelli M., and Pacak K. Phaeochromocytoma. Lancet 366 (2005) 665-675
38. Walther M.M., Herring J., Enquist E., et al. Von Recklinghausen's disease and phaeochromocytomas. J Urol 162 (1999) 1582-1586
39. Crist W., Gehan E.A., Ragab A.H., et al. The Third Intergroup Rhabdomyosarcoma Study. J Clin Oncol 13 (1995) 610-630
40. Friedman J.M. Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol 17 (2002) 548-554
41. Bien E., Stachowicz-Stencel T., Sierota D., et al. Sarcomas in children with neurofibromatosis type 1-poor prognosis despite aggressive combined therapy in four patients treated in a single oncological institution. Childs Nerv Syst 23 (2007) 1147-1153
42. Listernick R., Louis D.N., Packer R.J., and Gutmann D.H. Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force. Ann Neurol 41 (1997) 143-149
43. Wimmer K., and Etzler J. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?. Hum Genet 124 (2008) 105-122
44. Rasmussen S.A., Yang Q., and Friedman J.M. Mortality in neurofibromatosis 1: an analysis using US death certificates. Am J Hum Genet 68 (2001) 1110-1118
45. Gutmann D.H., Rasmussen S.A., Wolkenstein P., et al. Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). Neurology 59 (2002) 759-761
46. Ducatman B.S., Scheithauer B.W., Piepgras D.G., et al. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer 57 (1986) 2006-2021
47. Friedrich R.E., Hartmann M., and Mautner V.F. Malignant peripheral nerve sheath tumors (MPNST) in NF1-affected children. Anticancer Res 27 (2007) 1957-1960
48. Narod S.A., Stiller C., and Lenoir G.M. An estimate of the heritable fraction of childhood cancer. Br J Cancer 63 (1991) 993-999
49. Ferner R.E., and Gutmann D.H. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res 62 (2002) 1573-1577
50. De Raedt T., Brems H., Wolkenstein P., et al. Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 72 (2003) 1288-1292
51. Ferner R.E., Golding J.F., Smith M., et al. [18F]2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical study. Ann Oncol 19 (2008) 390-394
52. Maris J.M., Hogarty M.D., Bagatell R., and Cohn S.L. Neuroblastoma. Lancet 369 (2007) 2106-2120
53. Kushner B.H., Hajdu S.I., and Helson L. Synchronous neuroblastoma and von Recklinghausen's disease: a review of the literature. J Clin Oncol 3 (1985) 117-120
54. Mutesa L., Pierquin G., Janin N., et al. Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. Cancer Genet Cytogenet 182 (2008) 40-42
55. Gripp K.W. Tumor predisposition in Costello syndrome. Am J Med Genet C Semin Med Genet 137 (2005) 72-77
56. Cawthon R.M., Weiss R., Xu G.F., et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62 (1990) 193-201
57. Viskochil D., Buchberg A.M., Xu G., et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62 (1990) 187-192
58. Wallace M.R., Marchuk D.A., Andersen L.B., et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249 (1990) 181-186
59. Kluwe L., Siebert R., Gesk S., et al. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 23 (2004) 111-116
60. Upadhyaya M., Huson S.M., Davies M., et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 80 (2007) 140-151
61. Bos J.L. Ras oncogenes in human cancer: a review. Cancer Res 49 (1989) 4682-4689
62. De Schepper S., Maertens O., Callens T., et al. Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol 128 (2008) 1050-1053
63. Serra E., Rosenbaum T., Winner U., et al. Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Hum Mol Genet 9 (2000) 3055-3064
64. Upadhyaya M., Spurlock G., Monem B., et al. Germline and somatic NF1 gene mutations in plexiform neurofibromas. Hum Mutat 29 (2008) 103-111
65. Upadhyaya M., Kluwe L., Spurlock G., et al. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat 29 (2008) 74-82
66. Cichowski K., Shih T.S., Schmitt E., et al. Mouse models of tumor development in neurofibromatosis type 1. Science 286 (1999) 2172-2176
67. Vogel K.S., Klesse L.J., Velasco-Miguel S., et al. Mouse tumor model for neurofibromatosis type 1. Science 286 (1999) 2176-2179
68. Reilly K.M., Loisel D.A., Bronson R.T., et al. Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Nat Genet 26 (2000) 109-113
69. Reilly K.M., Tuskan R.G., Christy E., et al. Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects. Proc Natl Acad Sci USA 101 (2004) 13008-13013
70. Zhu Y., Guignard F., Zhao D., et al. Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma. Cancer Cell 8 (2005) 119-130
71. The Cancer Genome Atlas Research Network. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 455 (2008) 1061-1068
72. Parsons D.W., Jones S., Zhang X., et al. An integrated genomic analysis of human glioblastoma multiforme. Science 321 (2008) 1807-1812
73. van Oosterom A.T., Judson I., Verweij J., et al. Safety and efficacy of imatinib (STI571) in metastatic gastrointestinal stromal tumours: a phase I study. Lancet 358 (2001) 1421-1423
74. Heinrich M.C., Corless C.L., Demetri G.D., et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 21 (2003) 4342-4349
75. Wojtkowiak J.W., Fouad F., Lalonde D.T., et al. Induction of apoptosis in neurofibromatosis type 1 malignant peripheral nerve sheath tumor cell lines by a combination of novel farnesyl transferase inhibitors and lovastatin. J Pharmacol Exp Ther 326 (2008) 1-11
76. Ambrosini G., Cheema H.S., Seelman S., et al. Sorafenib inhibits growth and mitogen-activated protein kinase signaling in malignant peripheral nerve sheath cells. Mol Cancer Ther 7 (2008) 890-896
77. Dasgupta B., Yi Y., Chen D., et al. Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors. Cancer Res 65 (2005) 2755-2760
78. Johannessen C.M., Reczek E.E., James M.F., et al. The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci USA 102 (2005) 8573-8578
79. Yang F.C., Ingram D.A., Chen S., et al. Nf1-dependent tumors require a microenvironment containing Nf1+/- and c-kit-dependent bone marrow. Cell 135 (2008) 437-448